Targeted gene/syndrome under study

CEP76 / Joubert syndrome (ORPHA:475) or rod-cone dystrophy/retinitis pigmentosa (ORPHA:791)


Dear Colleagues,
We have identified bi-allelic variants of the CEP76 gene in patients with retinitis pigmentosa and/or Joubert syndrome (or equivalent). This could be a new autosomal recessive syndrome.
We would like to expand the cohort of patients with CEP76 variants in order to delineate the phenotype of this rare disease.

Coordinating clinicians/researchers

Francis Ramond – 


Genetics department, CHU Saint-Etienne, France

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples: No
  • Resampling of patients: No
  • Linked to a translational/basic research project: Yes